BRAF NM_004333.4:c.1799T A

Preferred Label : BRAF NM_004333.4:c.1799T A;

NCIt synonyms : NM_004333.4:c.1799T A; B-RAF1 c.1799T A; v-raf Murine Sarcoma Viral Oncogene Homolog B1 c.1799T A; BRAF c.1799T A;

NCIt related terms : BRAF V600E (c.1799T A) mutation;

NCIt definition : A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to adenine.;

SNP ID : rs113488022;

Details

Origin ID

C98344;

UMLS CUI

C3273992;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Glioblastoma Multiforme Baseline Form [NCIt concept]
- CPTAC Lung Squamous Cell Carcinoma and Lung Adenocarcinoma Baseline Form [NCIt concept]
- CPTAC Melanoma Baseline Form [NCIt concept]
- CPTAC Sarcoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- BRAF NP_004324.2:p.V600E [NCIt concept]
- BRAF Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BRAF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients